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The vascular type of Ehlers–Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers–...
We report a case of a patient with iris metastasis as the initial manifestation of a systemic cancer: upper gastrointestinal tract carcinoma.
Pseudoachalasia is a rare disease that accounts for only a small percentage of patients with dysphagia. Neuroendocrine tumors are rare malignancies that most commonly originate within the gastrointestinal trac...
Ascaris lumbricoides is one of the most common intestinal infections in developing countries, including Kosovo. In contrast to migration to the bile duct, migration of the worm to the gallbladder, due to the narr...
Great progress has recently been made in the treatment of metastatic renal cell carcinoma, including the introduction of nivolumab, an immune checkpoint inhibitor. Despite promising results, this treatment bri...
Solitary uterine metastases from extragenital cancers are very rare. Breast cancer is the most frequent primary site of metastasis to the uterine corpus, with invasive lobular carcinoma more likely to spread t...
Reducing intrathoracic pressure in the setting of compromised cerebral perfusion due to acute brain injury has been associated with reduced intracranial pressure and enhanced cerebral perfusion pressure and bl...
Thrombotic microangiopathy is caused by various conditions, but few cases secondary to trauma have been reported. We present the rare case of a patient with thrombotic microangiopathy-induced high-impact traum...
Neuroblastoma is an embryonal malignancy of the autonomic nervous system and is the most common extracranial tumor of early childhood. However, neuroblastoma in adults is rare with an overall incidence of 1 in...
The autoimmune disease myasthenia gravis can mimic a variety of neurological disorders leading to a delay in diagnosis and treatment. In the older population, due to confusion with signs of the ageing process ...
Joubert syndrome is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, ocular motor apraxia, and breathing abnormalities. Joubert syndrome is a genetically high...
Prolapse of the fallopian tube after hysterectomy is a rare but known complication. Cases of prolapse of the fallopian tube through the vaginal vault have been reported after abdominal, vaginal or laparoscopic...
Acute promyelocytic leukemia is characterized by a typical reciprocal translocation t(15;17)(q22;q21). Additional chromosomal abnormalities are reported in only 23–43 % of cases of acute promyelocytic leukemia.
Approximately 50 % of malignant melanomas harbor activating point mutations in the BRAF gene. Typically, these mutations result in the substitution of the amino acid valine at codon 600 of the gene, and 90–95 % o...
Sclerosing angiomatoid nodular transformation is a benign disorder of splenic tissue and is often mistaken as a potentially malignant entity in the diagnostic process. To the best of our knowledge, this is the...
Pruritus is a distressing symptom seen in palliative care. There is limited high-quality evidence of pharmaceutical treatments for pruritus in palliative care, including the use of paroxetine.
The treatment for sliding esophageal hernia with mild gastroesophageal reflux is usually conservative, but surgical treatment is recommended for refractory sliding esophageal hernia, paraesophageal hernia liab...
Esophageal respiratory fistulae are abnormal communications between the esophagus and the respiratory system. They are either congenital or acquired. Most acquired esophageal respiratory fistulae are of the es...
While dermatomyositis is often associated with malignancy, several autoimmune diseases like myositis can be caused by immune checkpoint inhibitors. Differentially diagnosing malignancy-associated dermatomyosit...
Pneumocephalus is usually a self-limiting condition commonly associated with neurosurgical interventions, head and facial trauma. In contrast, tension pneumocephalus is extremely rare, and considered a neurosu...
Dravet syndrome, a rare genetic disorder with early-onset epileptic encephalopathy, was first described by Dravet in 1978. Dravet syndrome is most frequently caused by various mutations of the SCN1A gene encoding...
Myelodysplastic syndromes are heterogeneous disorders. Patients with myelodysplastic syndrome disease often have ineffective hematopoiesis, cytopenias, blood cell dysplasia in one or more cell types, and are a...
Acromegaly is a rare syndrome in which there is unregulated hypersecretion of growth hormone. The anesthetic management of patients with this disorder is particularly challenging due to pre-existing cardiovasc...
This case illustrates the importance of prompt assessment and treatment of orbital cellulitis. In fact the ocular signs and symptoms may be associated with systemic complications which should be investigated a...
Valve-in-valve transcatheter aortic valve implantation for degenerated aortic bioprostheses is an effective option for patients at high risk for redo surgery, even if it may be burdened by complications more c...
Lymphangiomas are rare, benign tumors. An intra-abdominal location of these lesions is rarer still and there are only a few reports describing laparoscopic resection for retroperitoneal lymphangiomas, especial...
In this report, we describe a case of cerebral infarction caused by cardiac foreign body–induced infective endocarditis. We discuss the paradox of the treatment we used and highlight the need for careful exami...
Usher syndrome is a genetically heterogeneous condition and represents the most common cause of inherited combined vision and hearing loss. Deficits manifest as sensorineural hearing loss that typically develo...
Scleromalacia perforans is a rare ocular manifestation of rheumatoid arthritis which can potentially lead to blindness and is a late consequence in the course of the disease. It is an unusual finding for it to...
Cranial irradiation is one of the main treatment modalities for central nervous system tumors. It carries many complications, one being occlusive radiation vasculopathy of large vessels. It is an underrecogniz...
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and...
Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal ...
Benign biliary stricture is an infrequent condition and the majority occur following cholecystectomy. This case report highlights the occurrence of such a stricture 11 years after cholecystectomy without devel...
Xanthoma disseminatum is a very rare disease classified as a benign non-Langerhans cell histiocytosis, which is rarely associated with osteoarticular lesions. There is only a report of tumor abrasion during tr...
Rectal cancer with rectal prolapse is rare, described by only a few case reports. Recently, laparoscopic surgery has become standard procedure for either rectal cancer or rectal prolapse. However, the use of l...
Keratoconus may progress to acute corneal hydrops even after cross-linking. In some cases, keratoconus progresses during pregnancy. In this report, we present a case of a patient with increased anterior stroma...
Cancer of unknown primary site is still a demanding condition as it is per definition metastatic, with heterogeneous biological behavior, and it is often resistant to therapy. Cancer of unknown primary site ac...
A hip joint ganglion is a rare cause of lower-extremity swelling.
Traumatic diaphragmatic rupture and traumatic abdominal wall hernia are two well-described but rare clinical entities associated with blunt thoracoabdominal injuries. To the best of our knowledge, the combinat...
We report the case of a 62-year-old woman diagnosed with sarcomatoid renal cell carcinoma.
Schwannomas, also known as neurilemmomas, are benign slow-growing neoplasms originating from a Schwann cell sheath. These neoplasms are rare among the mesenchymal tumors of the gastrointestinal tract. In the s...
In this article, we present a clinical case of refractory septic shock resulting from intestinal perforation treated with high doses of vasopressin and hydrocortisone during emergency surgery.
Ganglioneuroblastoma, nodular is defined as a composite tumor of biologically distinct clones. The peripheral neuroblastic tumors in this category are characterized by the presence of grossly visible neuroblas...
In the current treatment of idiopathic ovarian torsion, the use of oophorectomy has declined in favor of preserving the ovary. This approach brings with it the question of how to reduce the possibility of reto...
The clinical picture of hypothyroidism, including neurological symptoms, can be multiform, which may delay or hamper the correct diagnosis.
Current literature estimates the risk of delayed intracranial hemorrhage as between 0.6 and 6% after mild head injury for patients on warfarin. Due to resource allocation issues, the need to actually diagnose ...
McCune–Albright syndrome is a rare sporadic disease characterized by fibrous bone dysplasia, café-au-lait skin spots and variable hyperfunctional endocrinopathies. McCune–Albright syndrome is caused by somatic...
Projectile foreign bodies are known to cause chronic heavy metal toxicity due to the release of metal into the bloodstream. However, the local effect around the metallic object has not been investigated and th...
Osteoid osteoma accounts for approximately 10% of all benign bone tumors. The most common sites of osteoid osteoma are the subcortical shaft and metaphyses of long bones, but any other skeletal bone site can b...
Spontaneous cerebrospinal fluid leaks are rare but may lead to confusion with other diseases in patients without history of trauma. We report a rare case unusual for two reasons. First, our patient was put und...
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Journal of Medical Case Reports